Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115449G>T , CM000681.2:g.10115449G>T | GRCh38 |
| NC_000019.9:g.10226125G>T , CM000681.1:g.10226125G>T | GRCh37 |
| NC_000019.8:g.10087125G>T | NCBI36 |
| NG_047007.1:g.8929G>T | |
| NG_051197.1:g.9476C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.947+30C>A MANE Select | ENSP00000253108.3:n.947+30C>A | |
| ENST00000253108.8:c.947+30C>A | ENSP00000253108.3:n.947+30C>A | |
| ENST00000590158.1:n.966+30C>A | ||
| ENST00000593054.5:c.341+30C>A | ENSP00000467187.1:n.341+30C>A | |
| NM_003755.3:c.947+30C>A | NP_003746.2:n.947+30C>A | |
| NM_003755.4:c.947+30C>A | NP_003746.2:n.947+30C>A | |
| NM_003755.5:c.947+30C>A MANE Select | NP_003746.2:n.947+30C>A |